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Integrated analysis of bulk and single-cell RNA sequencing reveals the impact of nicotinamide and tryptophan metabolism on glioma prognosis and immunotherapy sensitivity. 大量和单细胞 RNA 测序的综合分析揭示了烟酰胺和色氨酸代谢对胶质瘤预后和免疫疗法敏感性的影响。
IF 2.2 3区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2024-10-28 DOI: 10.1186/s12883-024-03924-5
Sen Wang, Shen Gao, Shaochong Lin, Xiaofeng Fang, Haopeng Zhang, Man Qiu, Kai Zheng, Yupeng Ji, Baijun Xiao, Xiangtong Zhang

Background: Nicotinamide and tryptophan metabolism play important roles in regulating tumor synthesis metabolism and signal transduction functions. However, their comprehensive impact on the prognosis and the tumor immune microenvironment of glioma is still unclear. The purpose of this study was to investigate the association of nicotinamide and tryptophan metabolism with prognosis and immune status of gliomas and to develop relevant models for predicting prognosis and sensitivity to immunotherapy in gliomas.

Methods: Bulk and single-cell transcriptome data from TCGA, CGGA and GSE159416 were obtained for this study. Gliomas were classified based on nicotinamide and tryptophan metabolism, and PPI network associated with differentially expressed genes was established. The core genes were identified and the risk model was established by machine learning techniques, including univariate Cox regression and LASSO regression. Then the risk model was validated with data from the CGGA. Finally, the effects of genes in the risk model on the biological behavior of gliomas were verified by in vitro experiments.

Results: The high nicotinamide and tryptophan metabolism is associated with poor prognosis and high levels of immune cell infiltration in glioma. Seven of the core genes related to nicotinamide and tryptophan metabolism were used to construct a risk model, and the model has good predictive ability for prognosis, immune microenvironment, and response to immune checkpoint therapy of glioma. We also confirmed that high expression of TGFBI can lead to an increased level of migration, invasion, and EMT of glioma cells, and the aforementioned effect of TGFBI can be reduced by FAK inhibitor PF-573,228.

Conclusions: Our study evaluated the effects of nicotinamide and tryptophan metabolism on the prognosis and tumor immune microenvironment of glioma, which can help predict the prognosis and sensitivity to immunotherapy of glioma.

背景:烟酰胺和色氨酸代谢在调节肿瘤合成代谢和信号转导功能方面发挥着重要作用。然而,它们对胶质瘤的预后和肿瘤免疫微环境的综合影响尚不清楚。本研究旨在探讨烟酰胺和色氨酸代谢与胶质瘤预后和免疫状态的关系,并建立相关模型预测胶质瘤的预后和对免疫治疗的敏感性:本研究从TCGA、CGGA和GSE159416获得了大量和单细胞转录组数据。根据烟酰胺和色氨酸代谢对胶质瘤进行分类,并建立与差异表达基因相关的 PPI 网络。通过机器学习技术,包括单变量 Cox 回归和 LASSO 回归,确定了核心基因并建立了风险模型。然后用 CGGA 的数据对风险模型进行了验证。最后,通过体外实验验证了风险模型中的基因对胶质瘤生物学行为的影响:结果:高烟酰胺和色氨酸代谢与脑胶质瘤的不良预后和高免疫细胞浸润水平有关。我们利用与烟酰胺和色氨酸代谢相关的七个核心基因构建了一个风险模型,该模型对胶质瘤的预后、免疫微环境和免疫检查点疗法的反应具有良好的预测能力。我们还证实,TGFBI的高表达可导致胶质瘤细胞的迁移、侵袭和EMT水平升高,而FAK抑制剂PF-573,228可降低TGFBI的上述效应:我们的研究评估了烟酰胺和色氨酸代谢对胶质瘤预后和肿瘤免疫微环境的影响,这有助于预测胶质瘤的预后和对免疫治疗的敏感性。
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引用次数: 0
The relationship between micronutrients and cognitive ability in an elderly population with mild cognitive impairment and Alzheimer's disease: a cross-sectional study. 患有轻度认知障碍和阿尔茨海默氏症的老年人群中微量营养素与认知能力之间的关系:一项横断面研究。
IF 2.2 3区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2024-10-25 DOI: 10.1186/s12883-024-03800-2
Camellia Akhgarjand, Rezvan Hashemi, Maryam Amini, Hamid Rasekhi, Dorreh Farazandeh, Farnaz Etesam, Aziz Rasooli, Hirad Houjaghani, Sholeh Faezi, Zahra Vahabi

Background: Mild cognitive impairment (MCI) and Alzheimer's disease (AD) are significant neurodegenerative disorders with increasing prevalence worldwide. Lifestyle and dietary factors, including micronutrients, have been suggested as modifiable risk factors for disease development. This study aims to investigate the association between micronutrients and cognitive ability in these diseases.

Methods: A cross-sectional study involving 105 participants with MCI and AD was conducted. Dietary assessments were performed using a validated food frequency questionnaire (FFQ), and micronutrient intake was calculated based on nutrient content. Disease severity was evaluated using the Functional Assessment Staging Tool (FAST). Statistical analyses, including correlation coefficients and multiple regression models, were employed to examine the association between micronutrients and disease progression.

Results: The results revealed significant correlations between disease severity and several micronutrients, including omega-3 fatty acids (B = -0.2, P = 0.01), carotenoids (B = -0.19, P = 0.02), dietary antioxidant compounds, including vitamins A, C, D, E (B = -0.19, P = 0.02), selenium (B = -0.17, P = 0.03), alpha-carotene (B = -0.16, P = 0.04), beta-carotene (B = -0.17, P = 0.03), and lycopene (B = -0.16, P = 0.04). Multivariate regression analysis showed that higher intake of omega-3 fatty acids was associated with slower disease progression. Furthermore, the levels of these micronutrients declined in advanced stages of the disease.

Conclusion: Omega-3 fatty acids and carotenoids may affect the cognitive ability and disease progression. Further longitudinal studies are warranted to establish causality and explore the therapeutic implications of these findings for the prevention and management of MCI and AD.

背景:轻度认知障碍(MCI)和阿尔茨海默病(AD)是严重的神经退行性疾病,在全球的发病率不断上升。包括微量营养素在内的生活方式和饮食因素被认为是可改变疾病发展的风险因素。本研究旨在探讨微量营养素与这些疾病的认知能力之间的关系:这项横断面研究涉及 105 名 MCI 和 AD 患者。研究采用经过验证的食物频率问卷(FFQ)进行饮食评估,并根据营养素含量计算微量营养素摄入量。疾病严重程度采用功能评估分期工具(FAST)进行评估。统计分析包括相关系数和多元回归模型,以研究微量营养素与疾病进展之间的关系:结果显示,疾病严重程度与几种微量营养素之间存在明显的相关性,包括欧米伽-3 脂肪酸(B = -0.2,P = 0.01)、类胡萝卜素(B = -0.19,P = 0.02)、膳食抗氧化化合物,包括维生素 A、C、D、E(B = -0.19,P = 0.02)、硒(B = -0.17,P = 0.03)、α-胡萝卜素(B = -0.16,P = 0.04)、β-胡萝卜素(B = -0.17,P = 0.03)和番茄红素(B = -0.16,P = 0.04)。多变量回归分析表明,摄入更多的欧米伽-3 脂肪酸与疾病进展的减缓有关。此外,在疾病晚期,这些微量营养素的水平会下降:结论:欧米茄-3 脂肪酸和类胡萝卜素可能会影响认知能力和疾病的进展。有必要进一步开展纵向研究,以确定因果关系,并探讨这些发现对预防和管理 MCI 和 AD 的治疗意义。
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引用次数: 0
Intraoperative neuromonitoring of visual evoked potentials in a pregnant patient with meningioma: a case report. 一名妊娠脑膜瘤患者术中视觉诱发电位的神经监测:病例报告。
IF 2.2 3区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2024-10-25 DOI: 10.1186/s12883-024-03915-6
Fumi Mori, Koichiro Sumi, Mitsuru Watanabe, Katsunori Shijo, Masatoshi Yumoto, Hideki Oshima, Chikashi Fukaya, Naoki Otani, Atsuo Yoshino

Background: Meningioma in the parasellar region may lead to visual impairment, so intraoperative neurological monitoring is essential for enucleation surgery. However, intraoperative neurological monitoring in pregnant women is challenging, as the anesthesia management must consider the effects and risks to the fetus. Remimazolam is a newly introduced intravenous anesthetic that has little effect on blood pressure. However, the effects of remimazolam on intraoperative neuromonitoring are little known. We treated a pregnant patient with parasellar meningioma who developed visual impairment, using remimazolam for anesthesia and intraoperative neurophysiological monitoring of the visual evoked potential.

Case presentation: A 34-year-old woman who was 20 weeks pregnant presented with visual acuity disturbances. Neuroimaging demonstrated a parasellar meningioma, and rapid tumor growth and worsening of symptoms subsequently occurred. Craniotomy for tumor removal was performed under anesthesia with remimazolam, which allowed monitoring of the visual evoked potentials. Her visual acuity was restored postoperatively, and no adverse events occurred in the fetus.

Conclusion: Our experience with intraoperative neuromonitoring of a pregnant woman in the third trimester showed that anesthesia with remimazolam allows safe brain surgery combined with intraoperative visual evoked potential monitoring. Further research is needed to determine the effects of remimazolam on the fetus, as well as the safe dosage and duration of exposure.

背景:脐带旁区域的脑膜瘤可能导致视力障碍,因此术中神经监测对去核手术至关重要。然而,对孕妇进行术中神经监测具有挑战性,因为麻醉管理必须考虑到对胎儿的影响和风险。雷马唑仑是一种新推出的静脉麻醉药,对血压影响很小。然而,瑞马唑仑对术中神经监测的影响却鲜为人知。我们使用雷马唑仑进行麻醉和术中视觉诱发电位的神经电生理监测,治疗了一名妊娠合并脐旁脑膜瘤的视力受损患者:一名怀孕 20 周的 34 岁女性出现视力障碍。神经影像学检查显示她患有杏仁旁脑膜瘤,随后肿瘤迅速生长,症状恶化。在使用雷马唑仑麻醉的情况下进行了开颅手术切除肿瘤,从而可以监测视觉诱发电位。她的视力在术后得到恢复,胎儿也没有出现不良反应:我们对一名怀孕三个月的孕妇进行术中神经监测的经验表明,使用雷马唑仑麻醉并结合术中视觉诱发电位监测,可以安全地进行脑部手术。要确定雷马唑仑对胎儿的影响以及安全剂量和暴露时间,还需要进一步研究。
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引用次数: 0
Inflammatory Neuropathy Consortium base (INCbase): a protocol of a global prospective observational cohort study for the development of a prediction model for treatment response in chronic inflammatory demyelinating polyneuropathy. 炎症性神经病变联盟基地(INCbase):为开发慢性炎症性脱髓鞘性多发性神经病变治疗反应预测模型而进行的全球前瞻性观察性队列研究方案。
IF 2.2 3区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2024-10-25 DOI: 10.1186/s12883-024-03903-w
Milou R Michael, Luuk Wieske, Jeffrey A Allen, Michael P Lunn, Kathrin Doppler, Cheng-Yin Tan, Haruki Koike, Lars K Markvardsen, Mahima Kapoor, Sung-Tsang Hsieh, Eduardo Nobile-Orazio, Bart C Jacobs, Yusuf A Rajabally, Ivana Basta, Paolo Ripellino, Luis Querol, Filip Eftimov

Background: INCbase is an international, multicenter prospective observational study using a customizable web-based modular registry to study the clinical, biological and electrophysiological variation and boundaries of chronic inflammatory demyelinating polyneuropathy (CIDP). The primary objective of INCbase is to develop and validate a clinical prediction model for treatment response.

Methods: All patients meeting clinical criteria for CIDP can be included in INCbase. Collected data include demographics, clinical history, diagnostics and various domains of clinical outcomes. Data is collected at a minimum of every 6 months for two years, and more frequently at the discretion of the investigational site to allow for assessment of unexpected changes in treatment response or clinical status. Participants can be enrolled in various sub-studies designed to capture data relevant to specific groups of interest. Data is entered directly into the web-based data entry system by local investigators and/or participants. Collection and local storage of biomaterial is optional. To develop a clinical prediction model for treatment response, newly diagnosed patients with active disease warranting start of first-line treatment will be included. The study population will be split into a development and validation cohort. Univariate and multivariate logistic regression analysis will be used to identify and combine predictors at start of treatment for treatment response at six months. Model performance will be assessed through discrimination and calibration in an external validation cohort. The externally validated prediction model will be made available to researchers and clinicians on the INCbase website.

Discussion: With this study, we aim to create a clinically relevant and implementable prediction model for treatment response to first line treatments in CIDP. INCbase enrollment started in April 2021, with 29 centers across 8 countries and 303 patients participating to date. This collaborative effort between academia, patient advocacy organizations and pharmaceutical industry will deepen our understanding of how to diagnose and treat CIDP.

研究背景INCbase是一项国际性多中心前瞻性观察研究,采用可定制的网络模块化登记系统,研究慢性炎症性脱髓鞘性多发性神经病(CIDP)的临床、生物学和电生理学变异及界限。INCbase 的主要目的是开发并验证治疗反应的临床预测模型:所有符合 CIDP 临床标准的患者均可纳入 INCbase。收集的数据包括人口统计学、临床病史、诊断和临床结果的各个领域。两年内至少每 6 个月收集一次数据,研究机构可酌情增加收集数据的频率,以便评估治疗反应或临床状态的意外变化。参试者可参加各种子研究,以获取特定兴趣群体的相关数据。数据由当地研究人员和/或参与者直接输入网络数据输入系统。生物材料的收集和本地存储为可选项。为建立治疗反应临床预测模型,将纳入新诊断出的需要开始一线治疗的活动性疾病患者。研究对象将分为开发队列和验证队列。将使用单变量和多变量逻辑回归分析来确定并结合开始治疗时的预测因素,以预测六个月后的治疗反应。将在外部验证队列中通过辨别和校准评估模型性能。经外部验证的预测模型将在 INCbase 网站上提供给研究人员和临床医生:通过这项研究,我们的目标是建立一个与临床相关且可实施的预测模型,用于预测 CIDP 一线治疗的治疗反应。INCbase 于 2021 年 4 月开始注册,迄今已有 8 个国家的 29 个中心和 303 名患者参与。这项由学术界、患者权益组织和制药业共同参与的研究将加深我们对如何诊断和治疗 CIDP 的理解。
{"title":"Inflammatory Neuropathy Consortium base (INCbase): a protocol of a global prospective observational cohort study for the development of a prediction model for treatment response in chronic inflammatory demyelinating polyneuropathy.","authors":"Milou R Michael, Luuk Wieske, Jeffrey A Allen, Michael P Lunn, Kathrin Doppler, Cheng-Yin Tan, Haruki Koike, Lars K Markvardsen, Mahima Kapoor, Sung-Tsang Hsieh, Eduardo Nobile-Orazio, Bart C Jacobs, Yusuf A Rajabally, Ivana Basta, Paolo Ripellino, Luis Querol, Filip Eftimov","doi":"10.1186/s12883-024-03903-w","DOIUrl":"10.1186/s12883-024-03903-w","url":null,"abstract":"<p><strong>Background: </strong>INCbase is an international, multicenter prospective observational study using a customizable web-based modular registry to study the clinical, biological and electrophysiological variation and boundaries of chronic inflammatory demyelinating polyneuropathy (CIDP). The primary objective of INCbase is to develop and validate a clinical prediction model for treatment response.</p><p><strong>Methods: </strong>All patients meeting clinical criteria for CIDP can be included in INCbase. Collected data include demographics, clinical history, diagnostics and various domains of clinical outcomes. Data is collected at a minimum of every 6 months for two years, and more frequently at the discretion of the investigational site to allow for assessment of unexpected changes in treatment response or clinical status. Participants can be enrolled in various sub-studies designed to capture data relevant to specific groups of interest. Data is entered directly into the web-based data entry system by local investigators and/or participants. Collection and local storage of biomaterial is optional. To develop a clinical prediction model for treatment response, newly diagnosed patients with active disease warranting start of first-line treatment will be included. The study population will be split into a development and validation cohort. Univariate and multivariate logistic regression analysis will be used to identify and combine predictors at start of treatment for treatment response at six months. Model performance will be assessed through discrimination and calibration in an external validation cohort. The externally validated prediction model will be made available to researchers and clinicians on the INCbase website.</p><p><strong>Discussion: </strong>With this study, we aim to create a clinically relevant and implementable prediction model for treatment response to first line treatments in CIDP. INCbase enrollment started in April 2021, with 29 centers across 8 countries and 303 patients participating to date. This collaborative effort between academia, patient advocacy organizations and pharmaceutical industry will deepen our understanding of how to diagnose and treat CIDP.</p>","PeriodicalId":9170,"journal":{"name":"BMC Neurology","volume":"24 1","pages":"415"},"PeriodicalIF":2.2,"publicationDate":"2024-10-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11515301/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142495263","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Normative values and factors affecting saphenous nerve responses in a south Asian population: a cross-sectional neurophysiological study at a tertiary care hospital in Pakistan. 影响南亚人群隐神经反应的标准值和因素:巴基斯坦一家三级医院的横断面神经生理学研究。
IF 2.2 3区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2024-10-24 DOI: 10.1186/s12883-024-03851-5
Sajid Hameed, Bisma Aziz, Pinin Baig, Marib Ghulam Rasool Malik, Safia Awan, Sara Khan

Background: The saphenous nerve, a sensory branch of the femoral nerve, is not commonly included in routine lower extremity nerve conduction studies due to a high frequency of non-recordable responses in healthy subjects. However, saphenous nerve conduction studies are sometimes utilized for the diagnostic assessment of isolated lumbosacral plexus, femoral, or saphenous mononeuropathies. Our study aims to determine normative saphenous nerve response values in a healthy Pakistani population and to investigate their associations with patient body mass index, age, and gender.

Methods: This cross-sectional descriptive study was undertaken over a 3‑month period (May to July 2021) at a neurophysiology department of a tertiary care center in Pakistan. Healthy subjects underwent neurological examination, anthropometric measurements, and bilateral SN nerve conduction studies, with recording of peak-latency, peak-to-peak amplitude and conduction velocity. Statistical analyses and linear regression were conducted to evaluate associations between nerve conduction study variables and patient characteristics. Statistical analyses were also run to assess patient characteristics affecting recordability of saphenous nerve responses. A p-value < 0.05 was considered statistically significant.

Results: Among 117 subjects, 79.5% (n = 93) had recordable saphenous nerve responses. Median peak-latency, amplitude, and conduction velocity were 3.2 (3.0-3.3) m/s, 7.7 (5.8-9.9) uV, and 44.0 (42.0-47.0) m/s, respectively. Bilaterally absent responses were observed in 20.5% (n = 24) of subjects. Obese participants had a significantly higher number of absent saphenous responses (p = 0.033). Females had shorter peak-latency (p = 0.006) and higher conduction velocity (p = 0.012).

Conclusions: Saphenous nerve responses can be used to assess unilateral femoral and saphenous nerve pathologies, provided they are recordable on the asymptomatic side for comparison. Absent bilateral saphenous nerve responses should be interpreted with caution given their prevalence in healthy individuals. Patient characteristics should be taken into consideration when interpreting recordable and nonrecordable saphenous nerve responses.

背景:隐神经是股神经的感觉分支,由于在健康受试者中出现不可记录反应的频率很高,因此常规的下肢神经传导研究通常不包括隐神经。然而,隐神经传导研究有时可用于诊断评估孤立的腰骶丛、股神经或隐神经单神经病。我们的研究旨在确定巴基斯坦健康人群的隐神经反应标准值,并调查其与患者体重指数、年龄和性别的关系:这项横断面描述性研究在巴基斯坦一家三级医疗中心的神经生理学部门进行,为期 3 个月(2021 年 5 月至 7 月)。健康受试者接受了神经系统检查、人体测量和双侧鼻窦神经传导研究,并记录了峰-峰频率、峰-峰振幅和传导速度。研究人员进行了统计分析和线性回归,以评估神经传导研究变量与患者特征之间的关联。还进行了统计分析,以评估影响隐神经反应记录能力的患者特征。A p值 结果:在 117 名受试者中,79.5%(n = 93)的隐神经反应可被记录。中位峰频、振幅和传导速度分别为 3.2 (3.0-3.3) m/s、7.7 (5.8-9.9) uV 和 44.0 (42.0-47.0) m/s。20.5%的受试者(n = 24)出现双侧无反应。肥胖受试者的隐静脉反应缺失率明显更高(p = 0.033)。女性的峰值延迟更短(p = 0.006),传导速度更高(p = 0.012):隐神经反应可用于评估单侧股神经和隐神经病变,前提是无症状侧的隐神经反应可记录下来进行比较。鉴于双侧隐神经反应在健康人中普遍存在,因此在解释双侧隐神经反应时应谨慎。在解释可记录和不可记录的隐神经反应时应考虑患者的特征。
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引用次数: 0
A 5-year natural history study in LAMA2-related muscular dystrophy and SELENON-related myopathy: the Extended LAST STRONG study. LAMA2相关肌营养不良症和SELENON相关肌病的5年自然史研究:LAST STRONG扩展研究。
IF 2.2 3区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2024-10-23 DOI: 10.1186/s12883-024-03852-4
E C M de Laat, S L S Houwen-van Opstal, K Bouman, J L M van Doorn, D Cameron, N van Alfen, A T M Dittrich, E J Kamsteeg, H J M Smeets, J T Groothuis, C E Erasmus, N C Voermans, Nicol C Voermans

Background: SELENON-related myopathy (SELENON-RM) is a rare congenital myopathy characterized by slowly progressive axial muscle weakness, rigidity of the spine, scoliosis, and respiratory insufficiency. Laminin-a2-related muscular dystrophy (LAMA2-MD) has a similar clinical phenotype, which ranges from severe, early-onset congenital muscular dystrophy type 1A (MDC1A) to milder forms presenting as childhood- or adult-onset limb-girdle type muscular dystrophy. The first 1.5-year natural history follow-up showed that 90% of the patients had low bone quality, respiratory impairments were found in all SELENON-RM and most of the LAMA2-MD patients, and many had cardiac risk factors. However, further extensive knowledge on long-term natural history data, and clinical and functional outcome measures is needed to reach trial readiness. Therefore, we extended the natural history study with 3- and 5-year follow-up visits (Extended LAST STRONG).

Methods: The Extended LAST STRONG is a long-term natural history study in Dutch-speaking patients of all ages diagnosed with genetically confirmed SELENON-RM or LAMA2-MD, starting in September 2023. Patients visit our hospital twice over a period of 2 years to complete a 5-year follow up from the initial LAST-STRONG study. At both visits, they undergo standardized neurological examination, hand-held dynamometry (age ≥ 5 years), functional measurements, muscle ultrasound, respiratory assessments (spirometry, maximal inspiratory and expiratory pressure, sniff nasal inspiratory pressure; age ≥ 5 years), Dual-energy X-ray absorptiometry (DEXA-)scan (age ≥ 2 years), X-ray of the left hand (age ≤ 17 years), lower extremity MRI (age ≥ 10 years), accelerometry for 8 days (age ≥ 2 years), and questionnaires (patient report and/or parent proxy; age ≥ 2 years). All examinations are adapted to the patient's age and functional abilities. Disease progression between all subsequent visits and relationships between outcome measures will be assessed.

Discussion: This study will provide valuable insights into the 5-year natural history of patients with SELENON-RM and LAMA2-MD and contribute to further selecting relevant and sensitive to change clinical and functional outcome measures. Furthermore, this data will help optimize natural history data collection in clinical care and help develop clinical care guidelines.

Trial registration: This study protocol including the patient information and consent forms has been approved by medical ethical reviewing committee ('METC Oost-Nederland'; https://www.ccmo.nl/metcs/erkende-metcs/metc-oost-nederland , file number: 2023-16401). It is registered at ClinicalTrials.gov (NCT06132750; study registration date: 2023-10-05; study first passed date: 2023-11-15).

背景:SELENON相关肌病(SELENON-RM)是一种罕见的先天性肌病,以缓慢进行性轴性肌无力、脊柱僵硬、脊柱侧弯和呼吸功能不全为特征。层粘连蛋白-a2相关肌营养不良症(LAMA2-MD)具有类似的临床表型,从严重的早发性先天性肌营养不良症1A型(MDC1A)到表现为儿童期或成年期肢腰型肌营养不良症的轻型病例。首期1.5年自然史随访显示,90%的患者骨质疏松,所有SELENON-RM患者和大多数LAMA2-MD患者都存在呼吸障碍,许多患者还存在心脏风险因素。然而,要做好试验准备,还需要进一步广泛了解长期自然病史数据以及临床和功能结果测量。因此,我们扩展了自然史研究,进行了 3 年和 5 年随访(扩展 LAST STRONG):扩展的LAST STRONG是一项长期自然史研究,研究对象是2023年9月起被诊断出患有经基因证实的SELENON-RM或LAMA2-MD的各年龄段荷兰语患者。患者将在两年内两次到我院就诊,完成首次LAST-Strong研究的5年随访。在两次就诊时,他们都要接受标准化的神经系统检查、手持式测力计(年龄≥ 5 岁)、功能测量、肌肉超声波检查、呼吸系统评估(肺活量测定、最大吸气和呼气压力、嗅鼻吸气压力;年龄≥ 5 岁)、双能 X 光吸收扫描(DEXA-)(年龄≥ 2 岁)、左手 X 光(年龄≤ 17 岁)、下肢 MRI(年龄≥ 10 岁)、为期 8 天的加速度测量(年龄≥ 2 岁)和问卷调查(患者报告和/或家长代理;年龄≥ 2 岁)。所有检查均根据患者的年龄和功能能力进行调整。将评估所有后续检查之间的疾病进展情况以及结果指标之间的关系:这项研究将为了解SELENON-RM和LAMA2-MD患者的5年自然史提供有价值的见解,并有助于进一步选择相关的、对变化敏感的临床和功能结局指标。此外,这些数据还将有助于优化临床护理中的自然病史数据收集,并帮助制定临床护理指南:本研究方案(包括患者信息和同意书)已获得医学伦理审查委员会的批准('METC Oost-Nederland'; https://www.ccmo.nl/metcs/erkende-metcs/metc-oost-nederland ,文件编号:2023-16401)。该研究已在 ClinicalTrials.gov 注册(NCT06132750;研究注册日期:2023-10-05;研究首次通过日期:2023-11-15)。
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引用次数: 0
Guillain-Barré syndrome with overlap between the finger drop variant and acute bulbar palsy: a case report. 格林-巴利综合征并发手指下垂变异型和急性球麻痹:一份病例报告。
IF 2.2 3区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2024-10-23 DOI: 10.1186/s12883-024-03899-3
Shota Ito, Satoshi Yokoi, Yuki Fukami, Ayumi Uchibori, Masahisa Katsuno

Background: Guillain-Barré syndrome (GBS) is a clinically heterogenous disease and encompasses several distinct clinical variants. Overlap between these variants can pose a diagnostic challenge. We report a case of finger drop variant and acute bulbar palsy overlap as an unusual manifestation of GBS.

Case presentation: An 81-year-old man presented with dysarthria, dysphagia, and upper limb weakness. Neurological examination revealed impaired tongue protrusion, the finger drop sign, and diminished brachioradial and triceps muscle reflexes. Nerve conduction studies showed reduced amplitudes and decreased velocities in the median and ulnar nerves. Cerebrospinal fluid analysis revealed albuminocytological dissociation and an anti-ganglioside antibody study revealed positivity for GM1, asialo-GM1, GT1a, GD1b, and GQ1b. As GBS was suspected, we initiated intravenous immunoglobulin treatment, resulting in gradual improvement within the next 3 weeks.

Conclusion: To the best of our knowledge, this is the first reported case of an overlap between the finger drop variant and acute bulbar palsy in GBS, highlighting the importance of considering GBS when patients present with a combination of atypical symptoms. Anti-ganglioside antibodies can be helpful and add diagnostic value in these complex cases.

背景:格林-巴利综合征(GBS)是一种临床异质性疾病,包括几种不同的临床变异。这些变异型之间的重叠会给诊断带来挑战。我们报告了一例手指下垂变异型与急性球麻痹重叠的 GBS 异常表现病例:一名 81 岁的男性患者出现构音障碍、吞咽困难和上肢无力。神经系统检查显示,他的伸舌能力受损,手指下垂,肱肌和肱三头肌反射减弱。神经传导检查显示,正中神经和尺神经的振幅减小,速度降低。脑脊液分析显示白蛋白细胞学分离,抗神经节苷脂抗体研究显示 GM1、asialo-GM1、GT1a、GD1b 和 GQ1b 阳性。由于怀疑是 GBS,我们开始静脉注射免疫球蛋白治疗,结果在接下来的 3 周内病情逐渐好转:据我们所知,这是首例报道的 GBS 手指下垂变异型与急性球麻痹重叠的病例,这凸显了当患者出现多种不典型症状时考虑 GBS 的重要性。抗神经节苷脂抗体对这些复杂病例有帮助并增加诊断价值。
{"title":"Guillain-Barré syndrome with overlap between the finger drop variant and acute bulbar palsy: a case report.","authors":"Shota Ito, Satoshi Yokoi, Yuki Fukami, Ayumi Uchibori, Masahisa Katsuno","doi":"10.1186/s12883-024-03899-3","DOIUrl":"10.1186/s12883-024-03899-3","url":null,"abstract":"<p><strong>Background: </strong>Guillain-Barré syndrome (GBS) is a clinically heterogenous disease and encompasses several distinct clinical variants. Overlap between these variants can pose a diagnostic challenge. We report a case of finger drop variant and acute bulbar palsy overlap as an unusual manifestation of GBS.</p><p><strong>Case presentation: </strong>An 81-year-old man presented with dysarthria, dysphagia, and upper limb weakness. Neurological examination revealed impaired tongue protrusion, the finger drop sign, and diminished brachioradial and triceps muscle reflexes. Nerve conduction studies showed reduced amplitudes and decreased velocities in the median and ulnar nerves. Cerebrospinal fluid analysis revealed albuminocytological dissociation and an anti-ganglioside antibody study revealed positivity for GM1, asialo-GM1, GT1a, GD1b, and GQ1b. As GBS was suspected, we initiated intravenous immunoglobulin treatment, resulting in gradual improvement within the next 3 weeks.</p><p><strong>Conclusion: </strong>To the best of our knowledge, this is the first reported case of an overlap between the finger drop variant and acute bulbar palsy in GBS, highlighting the importance of considering GBS when patients present with a combination of atypical symptoms. Anti-ganglioside antibodies can be helpful and add diagnostic value in these complex cases.</p>","PeriodicalId":9170,"journal":{"name":"BMC Neurology","volume":"24 1","pages":"411"},"PeriodicalIF":2.2,"publicationDate":"2024-10-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11515800/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142495262","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
CLCN2-related leukoencephalopathy with novel compound heterozygous variants followed with magnetic resonance imaging over 17 years: a case report. 用磁共振成像跟踪研究 CLCN2 相关白质脑病新型复合杂合变异体 17 年:病例报告。
IF 2.2 3区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2024-10-23 DOI: 10.1186/s12883-024-03919-2
Masayuki Ohira, Hirotomo Saitsu, Mitsuko Nakashima, Noriko Sato, Ken Inoue, Masaki Takao

Background: CLCN2-related leukoencephalopathy (CC2L) is a rare autosomal recessive disorder caused by biallelic variants of CLCN2, which encodes chloride channel 2. Although CC2L is associated with distinct radiological features, it presents with a wide range of clinical features.

Case presentation: A 34-year-old woman presented to our hospital with a sudden onset of vertigo with headache. The patient reported intermittent headaches and tingling in both arms since the age of 31 years. On the first visit, the patient was alert and neurologically intact, except for slight hyperreflexia of the limbs without laterality. Head magnetic resonance imaging (MRI) showed high-intensity signals on axial T2-weighted fluid-attenuated inversion recovery and diffusion-weighted images bilaterally in the posterior limbs of the internal capsules, cerebral peduncles, superior and middle cerebellar peduncles, decussation of superior cerebellar peduncles, and central tegmental tract. All the patient's symptoms were resolved or eased following supportive care. The patient stopped attending our hospital at the age of 46 years. At 51 years of age, the patient revisited our hospital because of the recurrence of vertigo, headache, and nausea. She did not present with any abnormalities by neurological examination. Head MRI showed widespread high-intensity signals similar to those 17 years ago. Genetic testing revealed compound heterozygous variants in CLCN2 (NM_004366.6): a novel variant c.1828 C > T, p.(Arg 610*) from her father and c.61dup, p.(Leu21Profs*27) from her mother. The patient was finally diagnosed with CC2L. She received supportive treatment, which made her symptoms manageable.

Conclusions: This is a detailed report of a patient with adult-onset CC2L who was successfully diagnosed and followed up with head MRI. This report provides new insights into CC2L and highlights its persistent, distinct, and stable characteristics observed in head MRI over one decade and the difficulty in forming a diagnosis without MRI when patients have minimal and common symptoms, such as in the present case.

背景:CLCN2相关性白质脑病(CC2L)是一种罕见的常染色体隐性遗传疾病,由编码氯离子通道2的CLCN2的双倍变体引起。尽管CC2L具有明显的放射学特征,但其临床表现却多种多样:一名 34 岁的女性因突发眩晕伴头痛到我院就诊。患者称自 31 岁起就出现间歇性头痛和双臂刺痛。首次就诊时,患者神志清醒,神经系统完好,只是四肢有轻微反射亢进,但无偏侧。头部磁共振成像(MRI)显示,在轴向T2加权流体增强反转恢复和弥散加权图像上,双侧内囊后肢、大脑脚、小脑上脚和小脑中脚、小脑上脚桁和中央被盖束出现高强度信号。经过支持性治疗后,患者的所有症状均得到缓解或减轻。患者在 46 岁时不再来我院就诊。51 岁时,患者因眩晕、头痛和恶心症状复发再次来我院就诊。神经系统检查未发现异常。头部核磁共振成像显示广泛的高强度信号与17年前相似。基因检测发现了CLCN2(NM_004366.6)的复合杂合子变异:来自父亲的新型变异c.1828 C > T, p.(Arg 610*)和来自母亲的c.61dup, p.(Leu21Profs*27) 。患者最终被确诊为 CC2L。她接受了支持性治疗,症状得以控制:本文详细报告了一名成功确诊并通过头部磁共振成像进行随访的成人型 CC2L 患者。该报告提供了对CC2L的新认识,并强调了十多年来在头部磁共振成像中观察到的CC2L持续、明显和稳定的特征,以及在患者症状轻微且常见的情况下(如本病例),未经磁共振成像而做出诊断的困难。
{"title":"CLCN2-related leukoencephalopathy with novel compound heterozygous variants followed with magnetic resonance imaging over 17 years: a case report.","authors":"Masayuki Ohira, Hirotomo Saitsu, Mitsuko Nakashima, Noriko Sato, Ken Inoue, Masaki Takao","doi":"10.1186/s12883-024-03919-2","DOIUrl":"10.1186/s12883-024-03919-2","url":null,"abstract":"<p><strong>Background: </strong>CLCN2-related leukoencephalopathy (CC2L) is a rare autosomal recessive disorder caused by biallelic variants of CLCN2, which encodes chloride channel 2. Although CC2L is associated with distinct radiological features, it presents with a wide range of clinical features.</p><p><strong>Case presentation: </strong>A 34-year-old woman presented to our hospital with a sudden onset of vertigo with headache. The patient reported intermittent headaches and tingling in both arms since the age of 31 years. On the first visit, the patient was alert and neurologically intact, except for slight hyperreflexia of the limbs without laterality. Head magnetic resonance imaging (MRI) showed high-intensity signals on axial T2-weighted fluid-attenuated inversion recovery and diffusion-weighted images bilaterally in the posterior limbs of the internal capsules, cerebral peduncles, superior and middle cerebellar peduncles, decussation of superior cerebellar peduncles, and central tegmental tract. All the patient's symptoms were resolved or eased following supportive care. The patient stopped attending our hospital at the age of 46 years. At 51 years of age, the patient revisited our hospital because of the recurrence of vertigo, headache, and nausea. She did not present with any abnormalities by neurological examination. Head MRI showed widespread high-intensity signals similar to those 17 years ago. Genetic testing revealed compound heterozygous variants in CLCN2 (NM_004366.6): a novel variant c.1828 C > T, p.(Arg 610*) from her father and c.61dup, p.(Leu21Profs*27) from her mother. The patient was finally diagnosed with CC2L. She received supportive treatment, which made her symptoms manageable.</p><p><strong>Conclusions: </strong>This is a detailed report of a patient with adult-onset CC2L who was successfully diagnosed and followed up with head MRI. This report provides new insights into CC2L and highlights its persistent, distinct, and stable characteristics observed in head MRI over one decade and the difficulty in forming a diagnosis without MRI when patients have minimal and common symptoms, such as in the present case.</p>","PeriodicalId":9170,"journal":{"name":"BMC Neurology","volume":"24 1","pages":"412"},"PeriodicalIF":2.2,"publicationDate":"2024-10-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11520155/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142495261","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Pregnancy and delivery after functional hemispherectomy for Rasmussen's encephalitis: a case report. Rasmussen 脑炎功能性半球切除术后的妊娠和分娩:病例报告。
IF 2.2 3区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2024-10-23 DOI: 10.1186/s12883-024-03906-7
Elena Jost, Waltraut M Merz, Patrick A Kupczyk, Laura Tascón Padrón, Eva C Weber, Christian G Bien, Philipp Kosian

Background: Rasmussen's encephalitis (RE) is a rare neurologic disorder characterized by progressive seizures and unilateral cerebral atrophy with onset during childhood and unknown etiology. When medical therapy appears refractory, surgical disconnection of the affected hemisphere is indicated. Quality of life after functional hemispherectomy is largely good, affected females may therefore pursue pregnancy. However, data on pregnancy and delivery in RE post hemispherectomy is extremely rare.

Case presentation: We present the case of a patient with left functional hemispherectomy for RE at the age of seven, who experienced two successful pregnancies. In both pregnancies, her post-surgical symptoms including right-sided spasticity, cephalgia, dizziness, and impairment of vision and speech deteriorated but improved to pre-pregnancy level after delivery. Neurologic sequelae post-hemispherectomy overlapped with clinical signs of preeclampsia and required close diagnostic surveillance during both pregnancies.

Conclusion: There are no data on the interaction between RE, hemispherectomy and pregnancy, making maternal and fetal risk assessment difficult. Due to the complexity of the condition and symptoms, management of RE in pregnancy remains highly challenging and requires an interdisciplinary approach. This is the first case description of two successful pregnancies in a woman with RE and status post-hemispherectomy. Further evidence is urgently required to improve counseling and management of affected women.

背景:拉斯穆森脑炎(Rasmussen's encephalitis,RE)是一种罕见的神经系统疾病,以进行性癫痫发作和单侧脑萎缩为特征,儿童期发病,病因不明。当药物治疗无效时,可通过手术切除受影响的大脑半球。功能性大脑半球切除术后的生活质量基本良好,因此患病女性可以继续怀孕。然而,有关半球切除术后 RE 患者怀孕和分娩的数据极为罕见:我们介绍的病例是一名因左侧功能性大脑半球切除术而在 7 岁时接受 RE 治疗的患者,她曾两次成功怀孕。在两次妊娠中,她的术后症状包括右侧痉挛、头痛、头晕、视力和语言障碍,但在分娩后症状有所改善,恢复到妊娠前水平。大脑半球切除术后的神经系统后遗症与子痫前期的临床症状重叠,需要在两次怀孕期间进行密切的诊断监测:目前还没有关于RE、大脑半球切除术和妊娠之间相互作用的数据,因此很难对母体和胎儿进行风险评估。由于病情和症状的复杂性,妊娠合并肾上腺皮质激素的治疗仍然极具挑战性,需要采用跨学科的方法。本文首次描述了一名患有 RE 并处于大脑半球切除术后状态的妇女两次成功怀孕的病例。目前急需进一步的证据来改善对受影响妇女的咨询和管理。
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引用次数: 0
TRANscranial direct current stimulation for FOcal Refractory epilepsy in mitochondrial disease (TRANSFORM): delayed-start, randomised, double-blinded, placebo-controlled study. 治疗线粒体病难治性癫痫的经颅直流电刺激(TRANSFORM):延迟启动、随机、双盲、安慰剂对照研究。
IF 2.2 3区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2024-10-22 DOI: 10.1186/s12883-024-03907-6
Katrin A Bangel, Albert Z Lim, Alasdair Blain, Yi Shiau Ng, Amy Winder, Joseph Bulmer, Grainne Gorman, Mark Baker, Robert McFarland

Background: Focal epilepsy is common in children and adults with mitochondrial disease. Seizures are often refractory to pharmacological treatment and, in this patient group, frequently evolve to refractory focal status epilepticus (also known as epilepsia partialis continua). Where this occurs, the long-term prognosis is poor. Transcranial DC stimulation (tDCS) is a promising, non-invasive, adjunctive treatment alternative to common surgical procedures. Limited recruitment of study participants with this rare disease and the ethical challenges of administering a treatment to one group and not another, while maintaining strict methodological rigour can pose challenges to the design of a clinical study.

Method: We designed the first delayed start, double-blinded, sham-controlled study to evaluate the efficacy of tDCS as an adjunctive treatment for focal epilepsy. We will include participants with a genetically confirmed diagnosis of mitochondrial disease with drug-resistant focal epilepsy aged ≥ 2 years, aiming to collect 30 episodes of focal status epilepticus, each treated for a maximum period of 14 days. The early start intervention arm will receive tDCS from day 1. The delayed start intervention arm will receive sham stimulation until crossover on day 3. Our primary endpoint is a greater than 50% reduction from baseline (on day 0) in seizure frequency assessed by 3x daily reporting, accelerometery, and video monitoring. Changes in the underlying epileptogenic focus within the brain related to the tDCS intervention will be assessed by magnetic resonance imaging (MRI) and/or electroencephalography (EEG).

Discussion: Study results in favour of treatment efficacy would support development of tDCS into a mainstream treatment option for focal epileptic seizures related to mitochondrial disease.

Trials registration: ISRCTN: 18,241,112; registered on 16/11/2021.

背景:局灶性癫痫常见于患有线粒体疾病的儿童和成人。癫痫发作常常对药物治疗产生耐药性,在这类患者中,经常演变为难治性局灶性癫痫(也称为癫痫部分性持续状态)。如果出现这种情况,长期预后很差。经颅直流电刺激(tDCS)是一种很有前景的非侵入性辅助治疗方法,可替代常见的外科手术。但招募到的患有这种罕见疾病的研究人员有限,而且在保持严格的方法学严谨性的同时,还要对一组人而不是另一组人进行治疗,这些伦理挑战都给临床研究的设计带来了挑战:我们设计了首个延迟开始、双盲、假对照研究,以评估 tDCS 作为局灶性癫痫辅助治疗方法的疗效。我们将纳入经基因确诊患有线粒体疾病并伴有耐药性局灶性癫痫且年龄≥2岁的参与者,旨在收集30次局灶性癫痫发作,每次治疗时间最长为14天。早期干预组将从第 1 天开始接受 tDCS 治疗。延迟开始干预组将接受假刺激,直到第 3 天交叉。我们的主要终点是通过每日 3 次报告、加速度计和视频监控评估癫痫发作频率比基线(第 0 天)减少 50% 以上。脑内与 tDCS 干预相关的潜在致痫灶的变化将通过磁共振成像(MRI)和/或脑电图(EEG)进行评估:讨论:有利于治疗效果的研究结果将支持将 tDCS 发展成为线粒体疾病相关局灶性癫痫发作的主流治疗方案:ISRCTN:18,241,112;注册日期:2021年11月16日。
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引用次数: 0
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